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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for EDARADD (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID128178
Official gene symbolEDARADD
Full nameEDAR-associated death domain
Aliases,ED3,EDA3,
Gene summaryThis gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq]
LocationChromosome: 1   Locus: 1q42.3-q43
Gene position236557680 - 236648008  Map Viewer
Gene orientationplus
Gene size90329 bp
Gene sequence
OMIM ID606603